Duchenne型肌营养不良症中神经元型一氧化氮合酶和utrophin的表达水平  

Expression levels of neuronal nitric oxide synthase and utrophin in patients with duchenne muscular dystrophy

作　　者：宋长栋[1] 刘恒方[1] 刘方[2] 张敏[1] 郭亚培[1] 吴世陶[1] 金东东 

机构地区：[1]郑州大学第五附属医院神经内科,河南郑州450052 [2]郑州大学第五附属医院护理部,河南郑州450052

出　　处：《中风与神经疾病杂志》2016年第1期18-21,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河南省医学科技攻关计划项目(2011020066);河南省科技攻关项目(132102310092)

摘　　要：目的研究神经元型一氧化氮合酶(n NOS)和抗肌萎缩蛋白相关蛋白(utrophin)在Duchenne型肌营养不良症(DMD)中的表达水平及与病情的关系,并探讨DMD中抗肌萎缩蛋白(dystrophin)、n NOS、utrophin 3者间的相关性。方法收集DMD患者26例,并分为轻症组(19例)和重症组(7例),收集正常对照患者21例,利用免疫荧光方法检测n NOS和utrophin的表达并进行统计分析。结果 DMD患者中23例n NOS呈完全缺失、3例明显减少,22例DMD患者utrophin表达增多,4例患者utrophin阴性表达,正常对照中n NOS均为阳性、utrophin均为阴性,DMD患者n NOS表达减少而utrophin表达增多(Z=-6.557、-5.426,P<0.05)。轻症组与重症组比较n NOS、utrophin的表达水平均无统计学意义。相关分析DMD中utrophin与dystrophin的表达水平呈负相关(r=-0.419,P<0.05),而n NOS与utrophin、dystrophin均无相关性。结论 DMD患者中n NOS的表达减少、utrophin的表达增多,且两者可能参与DMD的病理过程。Objective To study the expression levels of neuronal nitric oxide synthase（ n NOS） and dystrophin related protein（ utrophin） in Duchenne muscular dystrophy（ DMD） and their relationship with the disease,furthermore to analyze the correlation among dystrophin,n NOS and utrophin in DMD. Methods 26 cases of DMD being divided into mild group（ 19 cases） and severe group（ 7 cases） and 21 cases of control patients were collected and detected the expression levels of n NOS and utrophin by immunofluorescence. Results In DMD patients,the expression of n NOS was absent in 23 cases and reduced in 3 cases,and the expression of utrophin was increased in 22 cases and negative in 4 cases. While n NOS was positive and utrophin was negative in all cases of the control patients. The expression of n NOS was decreased and utrophin was increased in DMD patients（ Z =- 6. 577,- 5. 426,P 0. 05）. Moreover,no statistically significant difference were found in the expression of utrophin or n NOS between the mild group and severe group. In DMD patients the expression of dystrophin was negatively correlated with utrophin（ r =- 0. 419,P 0. 05）,while n NOS was not correlated with dystrophin or utrophin. Conclusion The expression level of n NOS was decreased in DMD patients,and the expression level of utrophin was increased,and the two proteins may be involved in the pathological process of DMD.

关 键 词：DUCHENNE型肌营养不良症 神经元型一氧化氮合酶 抗肌萎缩蛋白相关蛋白 

分 类 号：R746.2[医药卫生—神经病学与精神病学]